Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
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Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation in MFN2 has ... ...
